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A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing

BACKGROUND: Germline BRCA1 and BRCA2 mutations (gBRCAm) can inform pancreatic cancer (PC) risk and treatment but most of the available information is derived from white patients. The ethnic and geographic variability of gBRCAm prevalence and of germline BRCA (gBRCA) testing uptake in PC globally is...

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Autores principales: Paiella, S., Azzolina, D., Gregori, D., Malleo, G., Golan, T., Simeone, D.M., Davis, M.B., Vacca, P.G., Crovetto, A., Bassi, C., Salvia, R., Biankin, A.V., Casolino, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163165/
https://www.ncbi.nlm.nih.gov/pubmed/36822114
http://dx.doi.org/10.1016/j.esmoop.2023.100881
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author Paiella, S.
Azzolina, D.
Gregori, D.
Malleo, G.
Golan, T.
Simeone, D.M.
Davis, M.B.
Vacca, P.G.
Crovetto, A.
Bassi, C.
Salvia, R.
Biankin, A.V.
Casolino, R.
author_facet Paiella, S.
Azzolina, D.
Gregori, D.
Malleo, G.
Golan, T.
Simeone, D.M.
Davis, M.B.
Vacca, P.G.
Crovetto, A.
Bassi, C.
Salvia, R.
Biankin, A.V.
Casolino, R.
author_sort Paiella, S.
collection PubMed
description BACKGROUND: Germline BRCA1 and BRCA2 mutations (gBRCAm) can inform pancreatic cancer (PC) risk and treatment but most of the available information is derived from white patients. The ethnic and geographic variability of gBRCAm prevalence and of germline BRCA (gBRCA) testing uptake in PC globally is largely unknown. MATERIALS AND METHODS: We carried out a systematic review and prevalence meta-analysis of gBRCA testing and gBRCAm prevalence in PC patients stratified by ethnicity. The main outcome was the distribution of gBRCA testing uptake across diverse populations worldwide. Secondary outcomes included: geographic distribution of gBRCA testing uptake, temporal analysis of gBRCA testing uptake in ethnic groups, and pooled proportion of gBRCAm stratified by ethnicity. The study is listed under PROSPERO registration number #CRD42022311769. RESULTS: A total of 51 studies with 16 621 patients were included. Twelve of the studies (23.5%) enrolled white patients only, 10 Asians only (19.6%), and 29 (56.9%) included mixed populations. The pooled prevalence of white, Asian, African American, and Hispanic patients tested per study was 88.7%, 34.8%, 3.6%, and 5.2%, respectively. The majority of included studies were from high-income countries (HICs) (64; 91.2%). Temporal analysis showed a significant increase only in white and Asians patients tested from 2000 to present (P < 0.001). The pooled prevalence of gBRCAm was: 3.3% in white, 1.7% in Asian, and negligible (<0.3%) in African American and Hispanic patients. CONCLUSIONS: Data on gBRCA testing and gBRCAm in PC derive mostly from white patients and from HICs. This limits the interpretation of gBRCAm for treating PC across diverse populations and implies substantial global and racial disparities in access to BRCA testing in PC.
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spelling pubmed-101631652023-05-07 A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing Paiella, S. Azzolina, D. Gregori, D. Malleo, G. Golan, T. Simeone, D.M. Davis, M.B. Vacca, P.G. Crovetto, A. Bassi, C. Salvia, R. Biankin, A.V. Casolino, R. ESMO Open Original Research BACKGROUND: Germline BRCA1 and BRCA2 mutations (gBRCAm) can inform pancreatic cancer (PC) risk and treatment but most of the available information is derived from white patients. The ethnic and geographic variability of gBRCAm prevalence and of germline BRCA (gBRCA) testing uptake in PC globally is largely unknown. MATERIALS AND METHODS: We carried out a systematic review and prevalence meta-analysis of gBRCA testing and gBRCAm prevalence in PC patients stratified by ethnicity. The main outcome was the distribution of gBRCA testing uptake across diverse populations worldwide. Secondary outcomes included: geographic distribution of gBRCA testing uptake, temporal analysis of gBRCA testing uptake in ethnic groups, and pooled proportion of gBRCAm stratified by ethnicity. The study is listed under PROSPERO registration number #CRD42022311769. RESULTS: A total of 51 studies with 16 621 patients were included. Twelve of the studies (23.5%) enrolled white patients only, 10 Asians only (19.6%), and 29 (56.9%) included mixed populations. The pooled prevalence of white, Asian, African American, and Hispanic patients tested per study was 88.7%, 34.8%, 3.6%, and 5.2%, respectively. The majority of included studies were from high-income countries (HICs) (64; 91.2%). Temporal analysis showed a significant increase only in white and Asians patients tested from 2000 to present (P < 0.001). The pooled prevalence of gBRCAm was: 3.3% in white, 1.7% in Asian, and negligible (<0.3%) in African American and Hispanic patients. CONCLUSIONS: Data on gBRCA testing and gBRCAm in PC derive mostly from white patients and from HICs. This limits the interpretation of gBRCAm for treating PC across diverse populations and implies substantial global and racial disparities in access to BRCA testing in PC. Elsevier 2023-02-21 /pmc/articles/PMC10163165/ /pubmed/36822114 http://dx.doi.org/10.1016/j.esmoop.2023.100881 Text en © 2023 Published by Elsevier Ltd on behalf of European Society for Medical Oncology. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Original Research
Paiella, S.
Azzolina, D.
Gregori, D.
Malleo, G.
Golan, T.
Simeone, D.M.
Davis, M.B.
Vacca, P.G.
Crovetto, A.
Bassi, C.
Salvia, R.
Biankin, A.V.
Casolino, R.
A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
title A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
title_full A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
title_fullStr A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
title_full_unstemmed A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
title_short A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
title_sort systematic review and meta-analysis of germline brca mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163165/
https://www.ncbi.nlm.nih.gov/pubmed/36822114
http://dx.doi.org/10.1016/j.esmoop.2023.100881
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